Medical Care

Available treatment for I-cell disease remains limited.

Bone marrow transplantation has been attempted in a small number of patients. Data are limited; however, lysosomal enzyme levels seemed to normalize after transplant in at least one case.
[13] Results from a more recent study suggest that BMT is inadequate for treatment of this disease
[14] Although progression of the disease should theoretically cease, preexisting damage is usually irreversible. Seriously consider the risks and benefits of bone marrow transplantation in the medical decision-making process.

Efforts can be made to maximize overall health maintenance.

Because these children have progressive failure to thrive, nutritional supplementation may be beneficial. Promptly treat recurrent respiratory infections with antibiotics.

Profile view of 3-year-old with I-cell disease. Growth ceased more than one year earlier. Note small orbits, proptotic eyes, full and prominent mouth caused by gingival hypertrophy, short and broad hands, stiffening of small hand joints, prominent abdomen with umbilical hernia, and limited extension of the hips and knees.